banner
Genes Phenotypes Help, News, Blog

Gene: Zfp445 MGI:2143340

Log in to follow

Gene Summary

Name:
zinc finger protein 445
Synonyms:
ZNF168

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating calcium level Zfp445tm1b(EUCOMM)Hmgu HOM   Early adult 4.94×10-07
abnormal auditory brainstem response Zfp445tm1b(EUCOMM)Hmgu HET   Early adult 0.0335
increased red blood cell distribution width Zfp445tm1b(EUCOMM)Hmgu HOM   Early adult 5.33×10-08
preweaning lethality, incomplete penetrance Zfp445tm1b(EUCOMM)Hmgu HOM   Early adult 0.00459
decreased total retina thickness Zfp445tm1b(EUCOMM)Hmgu HOM   Early adult 2.00×10-05
decreased total retina thickness Zfp445tm1b(EUCOMM)Hmgu HET Early adult 0.000100
abnormal brain morphology Zfp445tm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased grip strength Zfp445tm1b(EUCOMM)Hmgu HET Early adult 5.35×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Electrocardiogram (ECG)

Waveform Image

42 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

12 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

13 Images

View images

Human diseases caused by Zfp445 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Zfp445 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Splenomegaly, Unconjugated hyperbilirubinemia, Elevated tran... ORPHA:766
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic anemia, Poikilo... OMIM:206200
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Anemia, Retinal atrophy, Elliptocytosis, Decreased serum iron... OMIM:616959
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... OMIM:615631
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... ORPHA:3203
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... OMIM:613673
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... ORPHA:98870
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... OMIM:224120
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... OMIM:300835
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... OMIM:300908
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hypophosphatasia
Anemia, Hypercalcemia ORPHA:436
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Rh Deficiency Syndrome
Reduced haptoglobin level, Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... ORPHA:71275
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Hypop... OMIM:600501
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Anemia, Hypercalcemia, Stillbirth OMIM:241500
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Anemia ORPHA:100025
Paternal Uniparental Disomy Of Chromosome 1
Abnormal retinal morphology on macular OCT, Episodic hemolytic anemia, Increased blood urea nitro... ORPHA:251004
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Orotic Aciduria
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Folate-unresponsive meg... OMIM:258900
Non-Functioning Paraganglioma
Hypercalcemia, Hypertensive retinopathy ORPHA:94080
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia, Hypertensive retinopathy OMIM:171420
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Refractory Celiac Disease
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... ORPHA:398063
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hyperparathyroidism, Neonatal Severe
Anemia, Calcinosis, Hypophosphatemia, Hypercalcemia, Splenomegaly OMIM:239200
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Retinal degeneration, Macu... OMIM:619260
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Abnormal retinal nerve fiber layer ... ORPHA:1215
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Intermediate Osteopetrosis
Anemia, Optic atrophy from cranial nerve compression, Hepatosplenomegaly, Thrombocytopenia, Hypoc... ORPHA:210110
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Uremic Pruritus
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:94059
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... ORPHA:231226
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia, Splenomegaly OMIM:612526
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Splenomegaly ORPHA:172
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Normocytic anemia, Hyperkalemia, Hypercalcemia, Eosinophilia, Hyponatremia, Macroc... ORPHA:199299
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia OMIM:145981
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Oculoskeletodental Syndrome
Splenomegaly, Hypocalcemia, Hypercalcemia OMIM:618440
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Albers-Schönberg Osteopetrosis
Anemia, Hypocalcemia, Abnormal leukocyte morphology, Optic atrophy ORPHA:53
Mastocytosis
Mastocytosis, Hypercalcemia, Acute leukemia, Splenomegaly, Chronic leukemia ORPHA:98292
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom... OMIM:618278
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Hypertensive retinopathy ORPHA:276621
Hepatocellular Carcinoma
Anemia, Hypokalemia, Hyperbilirubinemia, Polycythemia, Hypercalcemia, Thrombocytosis, Hyponatremi... ORPHA:88673
Pheochromocytoma
Hypercalcemia, Hypertensive retinopathy OMIM:171300
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... ORPHA:52368
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Acute Adrenal Insufficiency
Hyperuricemia, Normocytic anemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia,... ORPHA:95409
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Anemia, Retinal calcification, Transient hypophosphatemia, Hypocalcemia, Papil... OMIM:127000
Multiple Myeloma
Anemia, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemia, Splenomegaly ORPHA:29073
Osteopetrosis, Autosomal Recessive 1
Anemia, Optic atrophy, Pancytopenia, Thrombocytopenia, Hypocalcemia, Splenomegaly OMIM:259700
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia OMIM:175500
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia, Anemia OMIM:244460
Hereditary Pheochromocytoma-Paraganglioma
Retinal capillary hemangioma, Hypercalcemia, Hypertensive retinopathy ORPHA:29072
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Osteopetrosis, Autosomal Recessive 5
Anemia, Optic atrophy, Hyperbilirubinemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosple... OMIM:259720
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Addison Disease
Hyperuricemia, Normocytic anemia, Hyperkalemia, Increased circulating renin level, Thiamine-respo... ORPHA:85138
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Lymphopenia, Hypoproteinemia, Decreas... ORPHA:90362
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:405
X-Linked Agammaglobulinemia
Hypocalcemia, Thrombocytopenia, Neutropenia, Anemia ORPHA:47
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Abnormal circulating porphyrin concentration, Leukopenia, Hemolytic an... ORPHA:79277
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Colchicine Poisoning
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, Hypo... ORPHA:31824
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia OMIM:612462
Timothy Syndrome
Hypocalcemia OMIM:601005
Bartter Syndrome, Type 1, Antenatal
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri... OMIM:601678
Vipoma
Hypokalemia, Hypercalcemia, Normochromic anemia ORPHA:97282
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Glucagonoma
Acanthocytosis, Hypercalcemia, Normochromic anemia ORPHA:97280
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Congenital Disorder Of Glycosylation, Type Ig
Retinal detachment, Hypocalcemia OMIM:607143
Somatostatinoma
Hypochromic microcytic anemia, Hypercalcemia ORPHA:97283
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:99845
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:264700
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... ORPHA:94093
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulato... ORPHA:37042
Infantile Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potential... ORPHA:206436
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia, Hypocalcemia OMIM:602361
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:94089
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Ppoma
Hypercalcemia ORPHA:97278
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Macrocytic anemia OMIM:212750
Osteopetrosis With Renal Tubular Acidosis
Leukopenia, Anemia, Abnormal retinal morphology, Optic atrophy, Retinal atrophy, Elliptocytosis, ... ORPHA:2785
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Calcinosis, Hypokalemia, Hyponatremia, Hypocalcemia, Splenomegaly OMIM:617913
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... ORPHA:101085
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Grfoma
Hypercalcemia ORPHA:97261
Pearson Syndrome
Splenomegaly, Hyperalaninemia, Anemia, Hypophosphatemia, Hypokalemia, Reticulocytosis, Pancytopen... ORPHA:699
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Optic atrophy OMIM:618476
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Increased circulating metamyelocyte count, Elevated circulating creatine kinase con... ORPHA:36234
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Cockayne Syndrome Type 1
Pigmentary retinopathy, Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Abse... ORPHA:90321
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating creatine kinase concentration, ... ORPHA:26793
Cholera
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia ORPHA:173
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Pigmentary retinopathy ORPHA:746
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:289157
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Sarcoidosis
Leukopenia, Anemia, Hemolytic anemia, Increased T cell count, Hypercalcemia, Eosinophilia, Thromb... ORPHA:797
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hyperphosphatemia, Hypomagnesemia, Optic atrophy ORPHA:428
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:99027
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Juvenile Nephropathic Cystinosis
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine... ORPHA:411634
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potential... ORPHA:909
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Anemia, Retinal calcification, Hypocalcemic seizures, Pap... ORPHA:93325
Pseudohypoparathyroidism Type 1C
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:79444
Cockayne Syndrome A
Sensorineural hearing impairment, Optic atrophy, Retinal atrophy, Abnormal auditory evoked potent... OMIM:216400
Williams Syndrome
Abnormal circulating lipid concentration, Retinal arteriolar tortuosity, Hypercalcemia, Elevated ... ORPHA:904
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Splenomegaly, Hepatosplenomegaly ORPHA:1655
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... OMIM:609136
Cartilage-Hair Hypoplasia
Anemia, Hypocalcemia, Neutropenia, Abnormality of retinal pigmentation ORPHA:175
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Trisomy 10P
Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e... ORPHA:171929
Autosomal Recessive Malignant Osteopetrosis
Anemia, Optic nerve compression, Hypophosphatemia, Hypocalcemia, Splenomegaly ORPHA:667
Pseudohypoparathyroidism Type 1A
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:79443
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Rod-cone dystrophy, Hypocalcemic seizures ORPHA:2237
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Cockayne Syndrome B
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... OMIM:133540
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Thrombocytopenia, Hyperbilirubinemia, Anemia ORPHA:163979
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Hyperkalemia, Thrombocytopenia, Leukocytosis, Hyponatremia, Hypocalcemia ORPHA:544482
Williams-Beuren Syndrome
Retinal arteriolar tortuosity, Hypercalcemia OMIM:194050
Velocardiofacial Syndrome
Retinal vascular tortuosity, Hypocalcemia OMIM:192430
Visceral Steatosis, Congenital
Hypocalcemia, Neonatal death OMIM:228100
Isotretinoin-Like Syndrome
Hypocalcemia, Lymphopenia ORPHA:2306
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Gitelman Syndrome
Hypokalemia, Hypermagnesemia, Iron deficiency anemia, Hypocalcemia, Hypomagnesemia ORPHA:358
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anemia, Unconjugated hyperbilirubinemia, Pancytopenia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration, Thrombocytop... ORPHA:466650
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Sotos Syndrome
Acute lymphoblastic leukemia, Hypercalcemia ORPHA:821
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Optic atrophy, Retinal arteriolar tortuosity, Hypocalcemia, Thrombocyto... ORPHA:567
Liver Disease, Severe Congenital
Leukopenia, Anemia, Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Lym... OMIM:619991
Thymic Aplasia
Hypocalcemic tetany, T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of... ORPHA:83471
Hennekam Syndrome
Hypocalcemia, Splenomegaly, Lymphopenia ORPHA:2136
Cranioectodermal Dysplasia 1
Retinal dystrophy, Hypocalcemia OMIM:218330
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Hypomagnesemia, Hemolytic anemia, Hepatosplenomegaly OMIM:619503
Digeorge Syndrome
Anemia, Hypoplasia of the thymus, Thrombocytopenia, Hypocalcemia, Splenomegaly OMIM:188400
Charge Syndrome
Hypocalcemia, Lymphopenia, Retinal coloboma OMIM:214800
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Johanson-Blizzard Syndrome
Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Zfp445

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Zfp445.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
ZNF445 is a primary regulator of genomic imprinting. Genes & development (January 2019) Zfp445tm1a(EUCOMM)Hmgu PMC6317318

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Zfp445tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Zfp445tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Zfp445tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter